Linked Data
ClinVar Variation Id:
584931
dbSNP Id:
rs1172780277
gnomAD v2:
17-29588806-A-G
gnomAD v3:
17-31261788-A-G
gnomAD v4:
17-31261788-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31261788A>G , CM000679.2:g.31261788A>G | GRCh38 |
| NC_000017.10:g.29588806A>G , CM000679.1:g.29588806A>G | GRCh37 |
| NC_000017.9:g.26612932A>G | NCBI36 |
| NG_009018.1:g.171812A>G , LRG_214:g.171812A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.457A>G | ENSP00000492721.2:p.Asn153Asp | |
| ENST00000696138.1:c.4637A>G | ENSP00000512431.1:p.Lys1546Arg | |
| ENST00000696140.1:n.761A>G | ||
| ENST00000696141.1:c.646A>G | ||
| ENST00000687863.1:n.1300A>G | ||
| ENST00000691014.1:c.4685A>G | ENSP00000510595.1:p.Lys1562Arg | |
| ENST00000358273.9:c.4655A>G MANE Select | ENSP00000351015.4:p.Lys1552Arg | |
| ENST00000356175.7:c.4592A>G | ENSP00000348498.3:p.Lys1531Arg | |
| ENST00000358273.8:c.4655A>G | ENSP00000351015.4:p.Lys1552Arg | |
| ENST00000456735.6:c.3590A>G | ENSP00000389907.2:p.Lys1197Arg | |
| ENST00000466819.5:c.1171A>G | ||
| ENST00000479614.1:c.1108A>G | ||
| ENST00000493220.5:n.3128A>G | ||
| ENST00000579081.5:c.4694A>G | ENSP00000462408.1:p.Lys1565Arg | |
| NM_000267.3:c.4592A>G , LRG_214t1:c.4592A>G | NP_000258.1:p.Lys1531Arg | |
| NM_001042492.2:c.4655A>G , LRG_214t2:c.4655A>G | NP_001035957.1:p.Lys1552Arg | |
| XM_005257983.1:c.4655A>G | XP_005258040.1:p.Lys1552Arg | |
| XM_005257984.1:c.4592A>G | XP_005258041.1:p.Lys1531Arg | |
| XM_006721922.1:c.4685A>G | XP_006721985.1:p.Lys1562Arg | |
| XM_006721923.2:c.4646A>G | XP_006721986.1:p.Lys1549Arg | |
| XM_006721924.1:c.4685A>G | XP_006721987.1:p.Lys1562Arg | |
| XM_006721925.1:c.4622A>G | XP_006721988.1:p.Lys1541Arg | |
| XM_006721926.2:c.4685A>G | XP_006721989.1:p.Lys1562Arg | |
| XM_006721927.1:c.4685A>G | XP_006721990.1:p.Lys1562Arg | |
| XM_006721928.2:c.4685A>G | XP_006721991.1:p.Lys1562Arg | |
| XM_011524852.1:c.4682A>G | XP_011523154.1:p.Lys1561Arg | |
| XM_011524853.1:c.4646A>G | XP_011523155.1:p.Lys1549Arg | |
| XM_011524854.1:c.4646A>G | XP_011523156.1:p.Lys1549Arg | |
| XM_011524855.1:c.4646A>G | XP_011523157.1:p.Lys1549Arg | |
| XM_011524856.1:c.4646A>G | XP_011523158.1:p.Lys1549Arg | |
| XM_011524857.1:c.4685A>G | XP_011523159.1:p.Lys1562Arg | |
| NM_001042492.3:c.4655A>G MANE Select | NP_001035957.1:p.Lys1552Arg |